Introduction: Hyperhomocysteinemia (Hhcy) is a rare condition, observed in 5% of the general population, more commonly in men. It is mostly caused by a mutation in the MTHFR gene responsible for encoding methylenetetrahydrofolate reductase. Other possible causes include mutations in methionine synthase gene, vitamin B₆, B₁₂ or folate deficiency. It may be associated with cardiovascular diseases, renal failure, diabetes mellitus, muscle atrophy, and persistent hypercoagulable state, which can lead to acute coronary syndrome (ACS), acute cerebrovascular events (ACE) and deep venous thrombosis (DVT) (1, 2).

Case report: We present a case of a young man, 35-years-old, who suffered multiple strokes and transient ischemic attacks, causing right sided hemiparesis and dysphasia. Extensive neurological evaluation showed numerous ischemic lesions. He had dilatated cardiomyopathy (5.8 cm) with mildly decreased left ventricular ejection fraction (50%), frequent episodes of nodal rhythm, bradycardia (<35 beats per minute), an asystolic pause >3.8 seconds. A permanent VVI pacemaker was implanted. Due to muscular hypotrophy, muscle biopsy was performed, which excluded any known dystrophy. In June 2016 patient was hospitalized with typical stenocardia with normal electrocardiographic (ECG) finding and troponin levels. Coronary angiography has been performed, and coronary artery disease (CAD) has been excluded. In March 2017, due to physical activity patient has had typical stenocardia again. We have found high troponin levels and ST depression in inferoposterior leads on the ECG. Coronary angiography again showed no signs of CAD. Extensive diagnostics were performed in order to see whether the patient suffers from a hereditary hypercoagulable state. Mentioned analysis has showed that patient is homozygous for MTHFR gene and heterozygous 4G/5G PAI-1 gene. Permanent oral anticoagulant therapy as well as vitamin B₁₂ and folate were introduced.

Conclusion: Hyperhomocysteinemia is a rare condition which can be associated with muscle hypotrophy, as well as hypercoagulable state by which it can lead to ACS and ACE. Therefore, Hhcy should be taken into account in especially in healthy young adults especially because by using therapy, its consequences could be prevented.